Maffucci Syndrome, Calcium Homeostasis, and Endocrine Challenges in Management

ανά Ginnard, Olivia Z B, Burrage, Lindsay C, Karaviti, Lefkothea P
Τόπος έκδοσης J Endocr Soc (2021)

19-Year Follow-up of A Patient With Severe Glutathione Synthetase Deficiency

ανά Atwal, Paldeep S., Medina, Casey R., Burrage, Lindsay C., Sutton, V. Reid
Τόπος έκδοσης J Hum Genet (2016)

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders

ανά Burrage, Lindsay C., Nagamani, Sandesh C.S., Campeau, Philippe M., Lee, Brendan H.
Έκδοση 2014

Catel–Manzke syndrome: Further delineation of the phenotype associated with pathogenic variants in TGDS

ανά Pferdehirt, Rachel, Jain, Mahim, Blazo, Maria A., Lee, Brendan, Burrage, Lindsay C.
Τόπος έκδοσης Mol Genet Metab Rep (2015)

Sodium Phenylbutyrate Decreases Plasma Branched-Chain Amino Acids in Patients with Urea Cycle Disorders

ανά Burrage, Lindsay C., Jain, Mahim, Gandolfo, Laura, Lee, Brendan H., Nagamani, Sandesh CS.
Έκδοση 2014

Pleiotropy, Homeostasis, and Functional Networks Based on Assays of Cardiovascular Traits in Genetically Randomized Populations

ανά Nadeau, Joseph H., Burrage, Lindsay C., Restivo, Joe, Pao, Yoh-Han, Churchill, Gary, Hoit, Brian D.
Έκδοση 2003

A Mosaic 2q24.2 Deletion Narrows the Critical Region to a 0.4 Mb Interval That Includes TBR1, TANK, and PSMD14

ανά Burrage, Lindsay C., Eble, Tanya N., Hixson, Patricia M., Roney, Erin K., Cheung, Sau W., Franco, Luis M.
Τόπος έκδοσης Am J Med Genet A (2013)

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

ανά Kumar, Runjun D., Burrage, Lindsay C., Bartos, Jan, Ali, Saima, Schmitt, Eric, Nagamani, Sandesh C.S., LeMons, Cynthia
Τόπος έκδοσης Mol Genet Metab Rep (2021)

Increased mitochondrial oxidative phosphorylation in the liver is associated with obesity and insulin resistance

ανά Buchner, David A., Yazbek, Soha N., Solinas, Paola, Burrage, Lindsay C., Morgan, Michael G., Hoppel, Charles L., Nadeau, Joseph H.
Έκδοση 2010

Biomarkers for Liver Disease in Urea Cycle Disorders

ανά Nagamani, Sandesh C.S., Ali, Saima, Izem, Rima, Schady, Deborah, Masand, Prakash, Shneider, Benjamin L., Leung, Daniel H., Burrage, Lindsay C.
Τόπος έκδοσης Mol Genet Metab (2021)

Resistance to diet-induced obesity in mice with a single substituted chromosome

ανά Buchner, David A., Burrage, Lindsay C., Hill, Annie E., Yazbek, Soha N., O'Brien, William E., Croniger, Colleen M., Nadeau, Joseph H.
Έκδοση 2008

Milder Clinical and Biochemical Phenotypes Associated with the c.482G>A (p.Arg161Gln) Pathogenic Variant in Cobalamin C Disease: Implications for Management and Screening

ανά Almannai, Mohammed, Marom, Ronit, Divin, Kristian, Scaglia, Fernando, Sutton, V. Reid, Craigen, William J., Lee, Brendan, Burrage, Lindsay C., Graham, Brett H.
Τόπος έκδοσης Mol Genet Metab (2017)

Maternal Folate Polymorphisms and the Etiology of Human Nondisjunction

ανά Hassold, Terry J., Burrage, Lindsay C., Chan, Ernest R., Judis, LuAnn M., Schwartz, Stuart, James, S. Jill, Jacobs, Patricia A., Thomas, N. Simon
Έκδοση 2001

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

ανά Burrage, Lindsay C., Miller, Marcus J., Wong, Lee-Jun, Kennedy, Adam D., Sutton, V. Reid, Sun, Qin, Elsea, Sarah H., Graham, Brett H.
Τόπος έκδοσης J Pediatr (2015)

Early Childhood Presentation of Czech Dysplasia

ανά Burrage, Lindsay C., Lu, James T., Liu, David S., Moss, Timothy J., Gibbs, Richard, Schlesinger, Alan E., Bacino, Carlos A., Campeau, Philippe M., Lee, Brendan H.
Έκδοση 2013

Analyzing complex traits with congenic strains

ανά Shao, Haifeng, Sinasac, David S., Burrage, Lindsay C., Hodges, Craig A., Supelak, Pamela J., Palmert, Mark R., Moreno, Carol, Cowley, Allen W., Jacob, Howard J., Nadeau, Joseph H.
Έκδοση 2010

Neonatal Fractures as a Presenting Feature of LMOD3-Associated Congenital Myopathy

ανά Abbott, Megan, Jain, Mahim, Pferdehirt, Rachel, Chen, Yuqing, Tran, Alyssa, Duz, Mehmet Bugrahan, Seven, Mehmet, Gibbs, Richard A., Muzny, Donna, Lee, Brendan, Marom, Ronit, Burrage, Lindsay C.
Τόπος έκδοσης Am J Med Genet A (2017)

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

ανά Ng, Bobby G., Rosenfeld, Jill A., Emrick, Lisa, Jain, Mahim, Burrage, Lindsay C., Lee, Brendan, Craigen, William J., Bearden, David R., Graham, Brett H., Freeze, Hudson H.
Τόπος έκδοσης Am J Hum Genet (2018)

Adult Presentation of X-Linked Conradi-Hünermann-Happle Syndrome

ανά Posey, Jennifer E., Burrage, Lindsay C., Campeau, Philippe M., Lu, James T., Eble, Tanya N., Kratz, Lisa, Schlesinger, Alan E., Gibbs, Richard A., Lee, Brendan H., Nagamani, Sandesh CS.
Τόπος έκδοσης Am J Med Genet A (2015)

Deep congenic analysis identifies many strong, context-dependent QTLs, one of which, Slc35b4, regulates obesity and glucose homeostasis

ανά Yazbek, Soha N., Buchner, David A., Geisinger, Jonathan M., Burrage, Lindsay C., Spiezio, Sabrina H., Zentner, Gabriel E., Hsieh, Chang-Wen, Scacheri, Peter C., Croniger, Colleen M., Nadeau, Joseph H.
Έκδοση 2011